X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Heterozygote has two clonal populations

Barbara R Migeon, Vazken M. Der Kaloustian, William L. Nyhan, William J. Young, Barton Childs

Research output: Contribution to journalArticle

Abstract

Clones of skin fibroblasts cultured from the mother of two sons with X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency (Lesch-Nyhan syndrome) were assayed for activity of this enzyme by measurement of the incorporation of 3H-guanine into guanylic acid as counts per minute per microgram of protein and by autoradiography. The demonstration of two populations of clones, wild-type clones with normal enzyme activity and mutant clones unable to incorporate 3H-guanine, is evidence that the locus for hypoxanthineguanine phosphoribosyl transferase on one of the X chromosomes is inactive.

Original languageEnglish (US)
Pages (from-to)425-427
Number of pages3
JournalScience
Volume160
Issue number3826
StatePublished - 1968

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Hypoxanthine
Guanine
Heterozygote
Transferases
Clone Cells
Population
Lesch-Nyhan Syndrome
Guanosine Monophosphate
X Chromosome
Enzymes
Autoradiography
Fibroblasts
Skin
Proteins

ASJC Scopus subject areas

  • General

Cite this

Migeon, B. R., Der Kaloustian, V. M., Nyhan, W. L., Young, W. J., & Childs, B. (1968). X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Heterozygote has two clonal populations. Science, 160(3826), 425-427.

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency : Heterozygote has two clonal populations. / Migeon, Barbara R; Der Kaloustian, Vazken M.; Nyhan, William L.; Young, William J.; Childs, Barton.

In: Science, Vol. 160, No. 3826, 1968, p. 425-427.

Research output: Contribution to journalArticle

Migeon, BR, Der Kaloustian, VM, Nyhan, WL, Young, WJ & Childs, B 1968, 'X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Heterozygote has two clonal populations', Science, vol. 160, no. 3826, pp. 425-427.
Migeon, Barbara R ; Der Kaloustian, Vazken M. ; Nyhan, William L. ; Young, William J. ; Childs, Barton. / X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency : Heterozygote has two clonal populations. In: Science. 1968 ; Vol. 160, No. 3826. pp. 425-427.
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